View genomic variant #0000000274

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.534288C>T
Published as -
GERP 3.000
Segregation -
DB-ID HRAS_000003
MSCV MSCV_0000274
dbSNP ID rs104894230
Frequency -
Sources ;
Reference 16170316;22499344;16443854;20658932;17412879;18039947;6092966;6330729;17979197;21344638;{PMID:171
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
HRAS 00003315 NM_176795.3 0000000274 ./. c.35G>A p.(Gly12Asp) missense_variant,NMD_transcript_variant - 2/7 probably_damaging(0.995) r.(?) deleterious(0)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000013432; RCV000428111; RCV000032850; RCV000013431; RCV000013433; RCV000438340; RCV000157912;
Chromosome 11:534288..534288
ClinVar Allele ID 27639
Disease database name and identifier Human Phenotype Ontology:HP:0010816, MedGen:C0334082, OMIM:162900, Orphanet:ORPHA35125, SNOMED CT:25201003|Human Phenotype Ontology:HP:0012056, MeSH:D008545, MedGen:C0025202|Human Phenotype Ontology:HP:0100031, MeSH:D013964, MedGen:C0040136, Orphanet:ORPHA100087|MedGen:C0005684, OMIM:109800, Orphanet:ORPHA157980, SNOMED CT:399326009|MedGen:C0587248, OMIM:218040, Orphanet:ORPHA3071, SNOMED CT:309776008|MedGen:C1968782|MedGen:CN517202
ClinVar preferred disease name Epidermal nevus|Cutaneous melanoma|Neoplasm of the thyroid gland|Malignant tumor of urinary bladder|Costello syndrome|Myopathy, congenital, with excess of muscle spindles|not provided
HGVS variant names NC 000011.9:g.534288C>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:190020.0001|UniProtKB (protein):P01112#VAR 006836
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin
dbSNP ID 104894230
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000436832; RCV000433587; RCV000426130; RCV000418547; RCV000423741; RCV000422263; RCV000013437; RCV000440663; RCV000433266; RCV000623953; RCV000445090; RCV000417508; RCV000423413; RCV000444092; RCV000442448; RCV000428375; RCV000435805; RCV000428172; RCV000423622; RCV00044;
Chromosome 11:534288..534288
ClinVar Allele ID 27642
Disease database name and identifier Human Phenotype Ontology:HP:0004808, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:ORPHA519, SNOMED CT:17788007|Human Phenotype Ontology:HP:0006725, MedGen:C0281361|Human Phenotype Ontology:HP:0006739, MedGen:C0553723|Human Phenotype Ontology:HP:0006740, MedGen:C0279680|Human Phenotype Ontology:HP:0006775, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:ORPHA29073, SNOMED CT:109989006, SNOMED CT:55921005|Human Phenotype Ontology:HP:0011459, MedGen:C0152018, Orphanet:ORPHA70482|Human Phenotype Ontology:HP:0030078, MeSH:C538231, MedGen:C0152013|Human Phenotype Ontology:HP:0100013, MeSH:D001943, MedGen:C1458155, Orphanet:ORPHA180250, SNOMED CT:126926005|Human Phenotype Ontology:HP:0100031, MeSH:D013964, MedGen:C0040136, Orphanet:ORPHA100087|Human Phenotype Ontology:HP:0100843, MeSH:D005909, MedGen:C0017636, SNOMED CT:63634009|MeSH:C535575, MedGen:C1168401, OMIM:275355, Orphanet:ORPHA67037|MeSH:C538614, MedGen:C1336078|MeSH:C562393, MedGen:C0151779, SNOMED CT:93655004|MeSH:D002583, MedGen:CN236667|MeSH:D003528, MedGen:C0010606|MeSH:D009190, MedGen:C3463824, OMIM:614286, Orphanet:ORPHA52688|MeSH:D009303, MedGen:C0027439|MeSH:D015179, MedGen:CN236642|MeSH:D030342, MedGen:C0950123|MedGen:C0007112|MedGen:C0153574, Orphanet:ORPHA213569|MedGen:C0278701|MedGen:C0279663|MedGen:C0280630|MedGen:C0587248, OMIM:218040, Orphanet:ORPHA3071, SNOMED CT:309776008|MedGen:C2239176, OMIM:114550, Orphanet:ORPHA88673, SNOMED CT:187769009, SNOMED CT:25370001|MedGen:CN517202
ClinVar preferred disease name Acute myeloid leukemia|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Multiple myeloma|Carcinoma of esophagus|Lung adenocarcinoma|Neoplasm of the breast|Neoplasm of the thyroid gland|Glioblastoma|Squamous cell carcinoma of the head and neck|Papillary renal cell carcinoma, sporadic|Malignant melanoma of skin|Uterine cervical neoplasms|Adenoid cystic carcinoma|Myelodysplastic syndrome|Nasopharyngeal Neoplasms|Colorectal Neoplasms|Inborn genetic diseases|Adenocarcinoma of prostate|Malignant neoplasm of body of uterus|Adenocarcinoma of stomach|Ovarian Serous Cystadenocarcinoma|Uterine Carcinosarcoma|Costello syndrome|Hepatocellular carcinoma|not provided
HGVS variant names NC 000011.9:g.534288C>G
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:190020.0004|UniProtKB (protein):P01112#VAR 026106
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin
dbSNP ID 104894230
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000038460; RCV000013446; RCV000429375; RCV000029210; RCV000149830; RCV000212496;
Chromosome 11:534288..534288
ClinVar Allele ID 27651
Disease database name and identifier Human Phenotype Ontology:HP:0100013, MeSH:D001943, MedGen:C1458155, Orphanet:ORPHA180250, SNOMED CT:126926005|MedGen:C0587248, OMIM:218040, Orphanet:ORPHA3071, SNOMED CT:309776008|MedGen:C0853032|MedGen:C4016398|MedGen:CN166718, Orphanet:ORPHA98733|MedGen:CN517202
ClinVar preferred disease name Neoplasm of the breast|Costello syndrome|Nevus sebaceous|Costello syndrome, severe|Rasopathy|not provided
HGVS variant names NC 000011.9:g.534288C>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:190020.0013|UniProtKB (protein):P01112#VAR 068816
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin
dbSNP ID 104894230
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs10489423011534288534288C/G/T/AOMIM phenotype variantsCOSTELLO SYNDROME
rs10489423011534288534288C/G/T/AOMIM phenotype variantsCOSTELLO SYNDROME, SEVERE
rs10489423011534288534288C/G/T/AOMIM phenotype variantsBladder cancer, somatic
rs10489423011534288534288C/G/T/AOMIM phenotype variantsMYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
rs10489423011534288534288C/G/T/AOMIM phenotype variantsNevus, epidermal, somatic
rs10489423011534288534288C/G/T/AOMIM phenotype variantsNEVUS SEBACEOUS, SOMATIC
CM05328411534288534288HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CM08130511534288534288HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available